Friday, September 28, 2012

Misdiagnosis on a Grand Scale?

Misdiagnosis on a grand scale?

Around 190,000 people have a diagnosis of ME/CFS in the UK, and there
are approximately 9,300 newly diagnosed cases each year. Yet, how
valid a diagnosis of ME/CFS really is depends crucially on the rigour
of the initial clinical assessment, and the efforts made to exclude
other treatable conditions that might be causing the collection of
symptoms. If the examination is cursory – and if the clinician is
sceptical, alienated or just plain disinterested – the "diagnosis" can
easily become a convenient lay-by for clinically complex cases that
don't fit into any other category.

Every year ME Research UK gets about 400 calls or e-mails from
patients. A small number of these – not a flood, but a regular trickle
– are from patients reporting that they have improved after being
re-diagnosed with and treated for another condition. These conditions
have included Addison's disease, multiple sclerosis, sleep apnoea,
primary mitochondrial disease, primary liver disease and paranoid
schizophrenia – and in every case the caller has been content with the
re-diagnosis and/or the new treatments it has brought.

So, there is certainly anecdotal evidence that something is amiss with
the diagnosis of ME/CFS at the GP surgery. Thanks to two good
scientific papers from reputable clinical research groups in the UK,
we now have formal research evidence to back up these patients'

In the first – originally published in 2010 in the Journal of the
Royal College of Physicians Edinburgh (1) – researchers examined the
records of every patient referred by local GPs to the Newcastle CFS/ME
Clinical Service. The key finding was that 103 (40%) of referrals were
eventually diagnosed with other conditions
which could explain the
concatenation of symptoms. The main alternative diagnoses in these
patients were fatigue associated with a chronic disease (47% of all
alternative diagnoses); a primary sleep disorder (20%);
psychological/psychiatric illnesses (15%, most commonly, depression,
anxiety and post-traumatic stress disorder); and cardiovascular
disorders (4%).

The second, recently published report examined the prevalence of
alternative diagnoses in patients referred by GPs to the specialist
clinic at St Bartholomew's Hospital, London (2). Its major finding was
that a diagnosis of "CFS" was eventually confirmed in only 54% of
patients. Of the rest, 53 patients (21%) were given alternative
medical diagnoses (most commonly primary sleep disorders, endocrine
disorders, nutritional disorders and pain disorders), while 54
patients (22%) received alternative psychiatric diagnoses (most
commonly a depressive illness or anxiety disorder).

These reports provide clear, formal evidence that almost half of
patients referred from primary care with a diagnosis of ME/CFS
actually have something else wrong with them – a fact that is not
discovered until they are lucky enough to be seen at a specialist
clinic. This seems like misdiagnosis on a grand scale.

Something has to change. In the short term, continuing education for
GPs should be beefed up – ideally with input from ME/CFS charities and
experts. In the longer term, the problem could be resolved by the
creation of ME/CFS Centres of Excellence at key points throughout the
UK, offering biomedical assessment, proper diagnosis, treatment and
onward referrals, all under one roof. As well as improving patient
care, these centres would become validated "research resources" of
properly diagnosed patients for biomedical studies of the future.

1.Newton et al. The Newcastle NHS Chronic Fatigue Syndrome Service:
not all fatigue is the same. J R Coll Physicians Edinb 2010; 40:304–7.
Download pdf version here
2.Devasahayam A et al. Alternative diagnoses to chronic fatigue
syndrome in referrals to a specialist service: service evaluation
survey. JRSM Short Rep 2012; 3(1):4. Read full article here
This article appeared as an Editorial by Dr Neil Abbot in our
Breakthrough magazine Autumn 2012.
* * *
I've personally dealt with patients who actually had things like anemia or celiac disease.  Unfortunately, some of them then become convinced that what helped their "CFS" will help everyone, rather than accepting that they were misdiagnosed and never had CFS to begin with. 
Some doctors are unaware that chronic fatigue SYNDROME is not the same as chronic fatigue, the symptom.  One of the cases I helped with 25 years ago, her elderly doctor just glanced at the titles of the articles in his medical journal without reading the articles, and he assumed (always a bad thing!) that he was being au courant by calling what she had Chronic Fatigue Syndrome.  When I mentioned a number of classic symptoms and she had no idea what I was talking about, "I don't have that, I'm just tired all the time", I suggested she get a second opinion, and being treated for the right thing helped her greatly.
I've always been of the opinion that when a CFS-specific test is finally available, patients who've wrongly been told they have CFS will be re-diagnosed with something else, and patients who've been misdiagnosed with something else will be diagnosed with CFS.  The patient population will probably still be about the same 17 million worldwide, but it may not be the same 17 million people who currently think they have CFS.
While not every patient will have every symptom on this list (  Life as we know it: CFS/Fibro Symptom Checklist  ), if most of them sound unfamiliar, it's always a good thing to get a second opinion.  Even if you have to go out of network and pay for it yourself.  If you have something treatable, you can get treated and get on with your life instead of languishing in CFS Hell, where many patients are told "there's nothing we can do for you" and are simply sent home to die.

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